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and father with systemic lupus erythematosus &#40;SLE&#41;&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Her symptoms started with xerophthalmia &#40;red eye&#44; stinging sensation and ocular lacrimation&#41; associated with xerostomia &#40;drinking more than 3&#160;l of water per day&#44; including night waking&#41; and occasional mouth ulcers&#46; She reported intermittent polyarthralgia&#44; without oedema or stiffness&#46; No history of parotitis or Raynaud&#8217;s phenomenon&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">On examination&#44; she presented dysmorphic features typical of KS&#44; joint hypermobility without arthritis&#44; cutaneous xerosis&#44; cracked tongue and impalpable salivary glands&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Laboratory tests reported normal haemogram&#44; elevated amylase&#44; ANA 1&#47;1000 with speckled pattern&#44; positive anti-SSa&#44; normal complement and mild hypergammaglobulinaemia&#46; Inflammatory markers&#44; urinary sediment and the remaining immunological study were normal&#46; Salivary gland ultrasound &#40;SGUS&#41; showed normal dimensions&#44; heterogeneous parenchyma&#44; and hypoechoic areas&#44; compatible with jSS&#46; Biopsy of the minor salivary glands was normal&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">She was observed by the ophthalmology department who confirmed keratoconjunctivitis sicca&#44; with positive Schirmer test and Ocular Staining Score &#8805;5&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Due to transient liver function elevation&#44; she underwent a liver autoimmunity panel&#44; which was negative&#46; The elevated liver function in this syndrome could be due to autoimmune hepatitis or primary biliary cirrhosis&#44; and was therefore excluded&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">She started treatment with general measures for xerostomia and oral hygiene&#44; ocular lubrication&#44; and skin hydration&#46; During follow-up she developed mild photosensitive malar erythema&#46; Due to the risk of overlap with SLE and mild systemic manifestations &#40;arthralgias and hypergammaglobulinaemia&#41;&#44; treatment was started with hydroxychloroquine 4&#160;mg&#47;kg&#47;day&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">We now know that SS is an autoimmune disease characterised by T-lymphocyte infiltration at the level of the exocrine glands&#46; This infiltration leads to destruction of the exocrine glands and the onset of symptoms related to dryness of the infiltrated mucous membranes&#46; Up to one third of patients may present with more active and severe extraglandular manifestations that affect long-term prognosis<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#8211;4</span></a>&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">In children SS is rarely primary&#44; as in our case&#44; and therefore close monitoring is essential in this type of patient due to the risk of overlap with another connective tissue disease<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a>&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">There are currently no diagnostic criteria for SS in the paediatric age group&#59; adult criteria depend too much on evidence of glandular dysfunction&#44; which takes time to develop and is less evident during childhood&#46; Biopsy at this age has a low sensitivity due to the small size of the glands&#44; diagnostic difficulty and being able to biopsy an area that is normal<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a>&#46; Nevertheless&#44; our patient meets the 2016 ACR&#47;EULAR criteria<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a>&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">There are international groups that are working on diagnostic criteria for SS adapted to the paediatric age group&#46; Since we know that recurrent mumps is the most typical form of presentation in this age group&#44; including this entity in these criteria seems to increase diagnostic sensitivity for jSS&#46; It is possible that the combination of salivary gland inflammation &#40;clinical or subclinical parotitis&#44; SGUS or histopathology changes&#41; and positive autoantibody may be sufficient to diagnose SS in a child&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">If there are suggestive symptoms&#44; patients with KS should always be thoroughly assessed for autoimmune disorders&#46; This is the first case described in the literature of both syndromes&#46;</p></span>"
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Letter to the Editor
Kabuki syndrome with Sjögren Syndrome: First case reported
Síndrome de Kabuki con síndrome de Sjögren: primer caso descrito
Cristina Ferrerasa,b,
Corresponding author
cristinaferreras87@gmail.com

Corresponding author.
, Francisca Aguiarb,c, Mariana Rodriguesb,c, Iva Britob,c
a Departamento de Pediatría, Centro Hospitalar Universitário de São João, Porto, Portugal
b Facultad de Medicina, Universidad de Porto, Porto, Portugal
c Unidad de Reumatología Pediátrica y Joven Adulto, Centro Hospitalar Universitário de São João, Porto, Portugal
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and father with systemic lupus erythematosus &#40;SLE&#41;&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Her symptoms started with xerophthalmia &#40;red eye&#44; stinging sensation and ocular lacrimation&#41; associated with xerostomia &#40;drinking more than 3&#160;l of water per day&#44; including night waking&#41; and occasional mouth ulcers&#46; She reported intermittent polyarthralgia&#44; without oedema or stiffness&#46; No history of parotitis or Raynaud&#8217;s phenomenon&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">On examination&#44; she presented dysmorphic features typical of KS&#44; joint hypermobility without arthritis&#44; cutaneous xerosis&#44; cracked tongue and impalpable salivary glands&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Laboratory tests reported normal haemogram&#44; elevated amylase&#44; ANA 1&#47;1000 with speckled pattern&#44; positive anti-SSa&#44; normal complement and mild hypergammaglobulinaemia&#46; Inflammatory markers&#44; urinary sediment and the remaining immunological study were normal&#46; Salivary gland ultrasound &#40;SGUS&#41; showed normal dimensions&#44; heterogeneous parenchyma&#44; and hypoechoic areas&#44; compatible with jSS&#46; Biopsy of the minor salivary glands was normal&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">She was observed by the ophthalmology department who confirmed keratoconjunctivitis sicca&#44; with positive Schirmer test and Ocular Staining Score &#8805;5&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Due to transient liver function elevation&#44; she underwent a liver autoimmunity panel&#44; which was negative&#46; The elevated liver function in this syndrome could be due to autoimmune hepatitis or primary biliary cirrhosis&#44; and was therefore excluded&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">She started treatment with general measures for xerostomia and oral hygiene&#44; ocular lubrication&#44; and skin hydration&#46; During follow-up she developed mild photosensitive malar erythema&#46; Due to the risk of overlap with SLE and mild systemic manifestations &#40;arthralgias and hypergammaglobulinaemia&#41;&#44; treatment was started with hydroxychloroquine 4&#160;mg&#47;kg&#47;day&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">We now know that SS is an autoimmune disease characterised by T-lymphocyte infiltration at the level of the exocrine glands&#46; This infiltration leads to destruction of the exocrine glands and the onset of symptoms related to dryness of the infiltrated mucous membranes&#46; Up to one third of patients may present with more active and severe extraglandular manifestations that affect long-term prognosis<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#8211;4</span></a>&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">In children SS is rarely primary&#44; as in our case&#44; and therefore close monitoring is essential in this type of patient due to the risk of overlap with another connective tissue disease<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a>&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">There are currently no diagnostic criteria for SS in the paediatric age group&#59; adult criteria depend too much on evidence of glandular dysfunction&#44; which takes time to develop and is less evident during childhood&#46; Biopsy at this age has a low sensitivity due to the small size of the glands&#44; diagnostic difficulty and being able to biopsy an area that is normal<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a>&#46; Nevertheless&#44; our patient meets the 2016 ACR&#47;EULAR criteria<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a>&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">There are international groups that are working on diagnostic criteria for SS adapted to the paediatric age group&#46; Since we know that recurrent mumps is the most typical form of presentation in this age group&#44; including this entity in these criteria seems to increase diagnostic sensitivity for jSS&#46; It is possible that the combination of salivary gland inflammation &#40;clinical or subclinical parotitis&#44; SGUS or histopathology changes&#41; and positive autoantibody may be sufficient to diagnose SS in a child&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">If there are suggestive symptoms&#44; patients with KS should always be thoroughly assessed for autoimmune disorders&#46; This is the first case described in the literature of both syndromes&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Ferreras C&#44; Aguiar F&#44; Rodrigues M&#44; Brito I&#46; S&#237;ndrome de Kabuki con s&#237;ndrome de Sj&#246;gren&#58; primer caso descrito&#46; Reumatol Cl&#237;n&#46; 2022&#59;18&#58;499&#8211;500&#46;</p>"
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